CRISPR-targeting deleted 454 bp within the fourth exon. The predicted protein product is truncated at amino acid 602 and lacks the three C-terminal zinc-fingers with the addition of 25 nonsense amino acids in the terminal portion of the protein. (J:258875)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count